Links from Gene
Items: 1 to 20 of 1000
1.
rs1491583693 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 17:43530921
(GRCh38)
17:41608290
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43530921:G:GAG
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAG=0./0
(
ALFA)
GA=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491541845 has merged into rs34924870 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:43538150
(GRCh38)
17:41615518
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.1367/527
(ALSPAC)
A=0.3648/1827
(1000Genomes)
- HGVS:
NC_000017.11:g.43538150_43538159del, NC_000017.11:g.43538151_43538159del, NC_000017.11:g.43538152_43538159del, NC_000017.11:g.43538153_43538159del, NC_000017.11:g.43538154_43538159del, NC_000017.11:g.43538156_43538159del, NC_000017.11:g.43538157_43538159del, NC_000017.11:g.43538158_43538159del, NC_000017.11:g.43538159del, NC_000017.11:g.43538159dup, NC_000017.11:g.43538158_43538159dup, NC_000017.11:g.43538157_43538159dup, NC_000017.10:g.41615518_41615527del, NC_000017.10:g.41615519_41615527del, NC_000017.10:g.41615520_41615527del, NC_000017.10:g.41615521_41615527del, NC_000017.10:g.41615522_41615527del, NC_000017.10:g.41615524_41615527del, NC_000017.10:g.41615525_41615527del, NC_000017.10:g.41615526_41615527del, NC_000017.10:g.41615527del, NC_000017.10:g.41615527dup, NC_000017.10:g.41615526_41615527dup, NC_000017.10:g.41615525_41615527dup
4.
rs1491323439 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 17:43545933
(GRCh38)
17:41623302
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43545933:CG:CGCG
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGCG=0./0
(
ALFA)
CG=0.0003/19
(GnomAD)
- HGVS:
5.
rs1491244923 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:43538140
(GRCh38)
17:41615508
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43538139:CA:
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
6.
rs1491131383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 17:43530923
(GRCh38)
17:41608291
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43530920:TGTG:TG
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
7.
rs1491064287 has merged into rs60214474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 17:43543290
(GRCh38)
17:41620658
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCTCTCTC=0./0
(
ALFA)
CTCT=0.3744/1875
(1000Genomes)
- HGVS:
NC_000017.11:g.43543278TC[6], NC_000017.11:g.43543278TC[7], NC_000017.11:g.43543278TC[8], NC_000017.11:g.43543278TC[9], NC_000017.11:g.43543278TC[11], NC_000017.11:g.43543278TC[12], NC_000017.11:g.43543278TC[13], NC_000017.11:g.43543278TC[14], NC_000017.11:g.43543278TC[15], NC_000017.11:g.43543278TC[16], NC_000017.11:g.43543278TC[17], NC_000017.11:g.43543278TC[18], NC_000017.11:g.43543278TC[19], NC_000017.11:g.43543278TC[20], NC_000017.11:g.43543278TC[21], NC_000017.11:g.43543278TC[22], NC_000017.11:g.43543278TC[23], NC_000017.11:g.43543278TC[24], NC_000017.10:g.41620646TC[6], NC_000017.10:g.41620646TC[7], NC_000017.10:g.41620646TC[8], NC_000017.10:g.41620646TC[9], NC_000017.10:g.41620646TC[11], NC_000017.10:g.41620646TC[12], NC_000017.10:g.41620646TC[13], NC_000017.10:g.41620646TC[14], NC_000017.10:g.41620646TC[15], NC_000017.10:g.41620646TC[16], NC_000017.10:g.41620646TC[17], NC_000017.10:g.41620646TC[18], NC_000017.10:g.41620646TC[19], NC_000017.10:g.41620646TC[20], NC_000017.10:g.41620646TC[21], NC_000017.10:g.41620646TC[22], NC_000017.10:g.41620646TC[23], NC_000017.10:g.41620646TC[24], XM_047435514.1:c.*240TC[6], XM_047435514.1:c.*240TC[7], XM_047435514.1:c.*240TC[8], XM_047435514.1:c.*240TC[9], XM_047435514.1:c.*240TC[11], XM_047435514.1:c.*240TC[12], XM_047435514.1:c.*240TC[13], XM_047435514.1:c.*240TC[14], XM_047435514.1:c.*240TC[15], XM_047435514.1:c.*240TC[16], XM_047435514.1:c.*240TC[17], XM_047435514.1:c.*240TC[18], XM_047435514.1:c.*240TC[19], XM_047435514.1:c.*240TC[20], XM_047435514.1:c.*240TC[21], XM_047435514.1:c.*240TC[22], XM_047435514.1:c.*240TC[23], XM_047435514.1:c.*240TC[24]
8.
rs1491056166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG,TGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 17:43530605
(GRCh38)
17:41607974
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43530605:G:GTG,NC_000017.11:43530605:G:GTGTG,NC_000017.11:43530605:G:GTGTGTGTG
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
9.
rs1490848271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:43529696
(GRCh38)
17:41607064
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43529695:G:A
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490811644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:43543207
(GRCh38)
17:41620575
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43543206:T:A
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490778266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:43545999
(GRCh38)
17:41623367
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43545998:G:A
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490745474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:43532293
(GRCh38)
17:41609661
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43532292:G:A
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490628559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:43546141
(GRCh38)
17:41623509
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43546140:G:A
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490593163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:43543075
(GRCh38)
17:41620443
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43543074:C:T
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000685/2
(KOREAN)
- HGVS:
15.
rs1490490801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:43539082
(GRCh38)
17:41616450
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43539081:A:C,NC_000017.11:43539081:A:G
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
G=0.000071/1
(TOMMO)
- HGVS:
16.
rs1490413022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:43528193
(GRCh38)
17:41605561
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43528192:C:G,NC_000017.11:43528192:C:T
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000017.11:g.43528193C>G, NC_000017.11:g.43528193C>T, NC_000017.10:g.41605561C>G, NC_000017.10:g.41605561C>T, NM_001079675.5:c.*326G>C, NM_001079675.5:c.*326G>A, NM_001079675.4:c.*326G>C, NM_001079675.4:c.*326G>A, NM_001079675.3:c.*326G>C, NM_001079675.3:c.*326G>A, NM_001079675.2:c.*326G>C, NM_001079675.2:c.*326G>A, NM_001986.4:c.*326G>C, NM_001986.4:c.*326G>A, NM_001986.3:c.*326G>C, NM_001986.3:c.*326G>A, NM_001986.2:c.*326G>C, NM_001986.2:c.*326G>A, NM_001261437.3:c.*326G>C, NM_001261437.3:c.*326G>A, NM_001261437.2:c.*326G>C, NM_001261437.2:c.*326G>A, NM_001261437.1:c.*326G>C, NM_001261437.1:c.*326G>A, NM_001261438.3:c.*326G>C, NM_001261438.3:c.*326G>A, NM_001261438.2:c.*326G>C, NM_001261438.2:c.*326G>A, NM_001261438.1:c.*326G>C, NM_001261438.1:c.*326G>A, NM_001261439.3:c.*326G>C, NM_001261439.3:c.*326G>A, NM_001261439.2:c.*326G>C, NM_001261439.2:c.*326G>A, NM_001261439.1:c.*326G>C, NM_001261439.1:c.*326G>A, NM_001369366.2:c.*326G>C, NM_001369366.2:c.*326G>A, NM_001369366.1:c.*326G>C, NM_001369366.1:c.*326G>A, NM_001369367.2:c.*326G>C, NM_001369367.2:c.*326G>A, NM_001369367.1:c.*326G>C, NM_001369367.1:c.*326G>A, NM_001369368.2:c.*326G>C, NM_001369368.2:c.*326G>A, NM_001369368.1:c.*326G>C, NM_001369368.1:c.*326G>A, XM_047435593.1:c.*326G>C, XM_047435593.1:c.*326G>A, XM_047435592.1:c.*326G>C, XM_047435592.1:c.*326G>A
17.
rs1490216762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:43541128
(GRCh38)
17:41618496
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43541127:G:T
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489895043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:43528154
(GRCh38)
17:41605522
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43528153:T:C
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0038/7
(Korea1K)
- HGVS:
NC_000017.11:g.43528154T>C, NC_000017.10:g.41605522T>C, NM_001079675.5:c.*365A>G, NM_001079675.4:c.*365A>G, NM_001079675.3:c.*365A>G, NM_001079675.2:c.*365A>G, NM_001986.4:c.*365A>G, NM_001986.3:c.*365A>G, NM_001986.2:c.*365A>G, NM_001261437.3:c.*365A>G, NM_001261437.2:c.*365A>G, NM_001261437.1:c.*365A>G, NM_001261438.3:c.*365A>G, NM_001261438.2:c.*365A>G, NM_001261438.1:c.*365A>G, NM_001261439.3:c.*365A>G, NM_001261439.2:c.*365A>G, NM_001261439.1:c.*365A>G, NM_001369366.2:c.*365A>G, NM_001369366.1:c.*365A>G, NM_001369367.2:c.*365A>G, NM_001369367.1:c.*365A>G, NM_001369368.2:c.*365A>G, NM_001369368.1:c.*365A>G, XM_047435593.1:c.*365A>G, XM_047435592.1:c.*365A>G
19.
rs1489313338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:43539120
(GRCh38)
17:41616488
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43539119:A:T
- Gene:
- DHX8 (Varview), ETV4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: